A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585881



Internal ID6626196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44311308..44312530hg38UCSC Ensembl
Innerchr1:44311312..44312527hg38UCSC Ensembl
Outerchr1:44311305..44312534hg38UCSC Ensembl
chr1:44776980..44778202hg19UCSC Ensembl
Innerchr1:44776984..44778199hg19UCSC Ensembl
Outerchr1:44776977..44778206hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9924633, essv9924634
SamplesHG03048, HG02462
Known GenesERI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585881
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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